Understanding the anatomy of dystonia: determinants of penetrance and phenotype.
Understanding the anatomy of dystonia: determinants of penetrance and phenotype.
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DOI：
10.1007/s11910-013-0401-0
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发表时间：
2013-11
影响因子：
5.6
通讯作者：
Eidelberg, David
中科院分区：
文献类型：
--
作者：
Lerner, Renata P.;Niethammer, Martin;Eidelberg, David
肌张力障碍包括一组以不随意肌长时间收缩导致重复运动和异常姿势为特征的综合征。原发性肌张力障碍与超过14种不同的基因型相关，其中大多数遵循常染色体显性遗传模式，外显率降低。与病因无关，该病的特点是疾病表型和临床严重程度的广泛变异性。最近的神经影像学研究在明显和非明显的肌张力障碍遗传携带者中发现了这一现象，发现两组小脑-丘脑-皮质束的微观结构完整性差异与疾病外显率有关。进一步的研究表明，这些差异是特定于亚罗兰白质区域的，与临床表型有关。临床严重程度与显微结构改变程度相关。这些发现提示了在肌张力障碍中观察到的外显性和临床变异性的机制，并可能为肢体难治性症状患者提供新的治疗靶点。
The dystonias comprise a group of syndromes characterized by prolonged involuntary muscle contractions resulting in repetitive movements and abnormal postures. Primary dystonia has been associated with over 14 different genotypes, most of which follow an autosomal dominant inheritance pattern with reduced penetrance. Independent of etiology, the disease is characterized by extensive variability in disease phenotype and clinical severity. Recent neuroimaging studies investigating this phenomenon in manifesting and non-manifesting genetic carriers of dystonia have discovered microstructural integrity differences in the cerebello-thalamo-cortical tract in both groups related to disease penetrance. Further study suggests these differences to be specific to subrolandic white matter regions somatotopically related to clinical phenotype. Clinical severity was correlated to the degree of microstructural change. These findings suggest a mechanism for the penetrance and clinical variability observed in dystonia and may represent a novel therapeutic target for patients with refractory limb symptoms.
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